Canonical Allele Identifier: PA2826578061
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 522554
ClinVar RCV Id: RCV000625697 RCV004025286 RCV002531924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Glu3094Asp
CA6910575
NM_001278055.2:c.9282G>C
CA387513798
NM_001278055.2:c.9282G>T